High prevalence of BRAFV600E in patients with cholestasis, sclerosing cholangitis or liver fibrosis secondary to Langerhans cell histiocytosis.
Xiomara CarrereNicolás A PintoNagore Gene OlacireguiLaura GalluzzoEstefania RossettiVeronica Celis PassiniNoelia Salvador MarcosGuillermo L ChantadaJorge BraierCinzia LavarinoGuido FelizziaPublished in: Pediatric blood & cancer (2021)
Targeted therapies with MAPK inhibitors have proven to modulate the clinical manifestations of patients with Langerhans cell histiocytosis (LCH). We explored the presence of BRAFV600E mutation in our cohort of patients with LCH and cholestasis, sclerosing cholangitis, or liver fibrosis that presented resistance to chemotherapy. The BRAFV600E mutation was detected either in the diagnosis (skin and bone) or liver biopsy in our cohort of 13 patients. Thus, we observed a high incidence of BRAFV600E mutation in 100% either in diagnostic biopsy (skin and bone) or liver biopsy in patients with progressive liver disease, sequela, or liver transplant requirement.
Keyphrases
- liver fibrosis
- soft tissue
- ultrasound guided
- fine needle aspiration
- single cell
- end stage renal disease
- cell therapy
- bone mineral density
- newly diagnosed
- ejection fraction
- multiple sclerosis
- drug induced
- prognostic factors
- risk factors
- signaling pathway
- bone loss
- peritoneal dialysis
- stem cells
- locally advanced
- bone marrow
- rectal cancer